Nephrol Dial Transplant (2003) 18: 1696-1700
© 2003 European Renal Association-European Dialysis and Transplant Association
Editorial Comment
Hypokalaemic salt-losing tubulopathies: an evolving story
Pediatric Nephrology Unit, Rambam Medical Center, Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel
Correspondence and offprint requests to: Israel Zelikovic, MD, Pediatric Nephrology Unit, Rambam Medical Center, POB 9602, Haifa 31096, Israel. Email: i_zelikovic@rambam.health.gov.il
Keywords: Bartter syndrome; co-transporters; Gitelman syndrome; hypokalaemia; tubulopathy
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Introduction
Bartter syndrome, first described in 1962 [1], is a group of closely related hereditary tubulopathies. All variants of the syndrome share several clinical characteristics including renal salt wasting, hypokalaemic metabolic alkalosis, hyperreninaemic hyperaldosteronism with normal blood pressure, and hyperplasia of the juxtaglomerular apparatus [2–4]. All forms of the syndrome are transmitted as autosomal recessive traits.
Three distinct clinical phenotypes have been distinguished, including antenatal Bartter syndrome, classic Bartter syndrome and Gitelman syndrome (Table 1). Recently, however, phenotypic overlap has been noted, and additional variants of Bartter syndrome have been described (Table 1, Figure 1), thereby expanding the clinical spectrum of the syndrome and providing further insight into the pathophysiological mechanisms underlying this complex disorder. Over the past decade, the breakthrough in molecular biology and molecular genetics has produced the tools to investigate various forms of Bartter syndrome at the
Phenotypes
Pathogenesis
Genetic variants
Abnormalities in urinary mineral excretion
Conclusion
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